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Pregled bibliografske jedinice broj: 1249456

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Prins, Bram P.; Mead, Timothy J.; Brody, Jennifer A.; Sveinbjornsson, Gardar; Ntalla, Ioanna; Bihlmeyer, Nathan A.; van den Berg, Marten; Bork- Jensen, Jette; Cappellani, Stefania; Van Duijvenboden, Stefan et al.
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 // Genome biology, 19 (2018), 87, 17 doi:10.1186/s13059-018-1457-6 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1249456 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Autori
Prins, Bram P. ; Mead, Timothy J. ; Brody, Jennifer A. ; Sveinbjornsson, Gardar ; Ntalla, Ioanna ; Bihlmeyer, Nathan A. ; van den Berg, Marten ; Bork- Jensen, Jette ; Cappellani, Stefania ; Van Duijvenboden, Stefan ; Klena, Nikolai T. ; Gabriel, George C. ; Liu, Xiaoqin ; Gulec, Cagri ; Grarup, Niels ; Haessler, Jeffrey ; Hall, Leanne M. ; Iorio, Annamaria ; Isaacs, Aaron ; Li-Gao, Ruifang ; Lin, Honghuang ; Liu, Ching-Ti ; Lyytikainen, Leo-Pekka ; Marten, Jonathan ; Mei, Hao ; Mueller-Nurasyid, Martina ; Orini, Michele ; Padmanabhan, Sandosh ; Radmanesh, Farid ; Ramirez, Julia ; Robino, Antonietta ; Schwartz, Molly ; van Setten, Jessica ; Smith, Albert V. ; Verweij, Niek ; Warren, Helen R. ; Weiss, Stefan ; Alonso, Alvaro ; Arnar, David O. ; Bots, Michiel L. ; de Boer, Rudolf A. ; Dominiczak, Anna F. ; Eijgelsheim, Mark ; Ellinor, Patrick T. ; Guo, Xiuqing ; Felix, Stephan B. ; Harris, Tamara B. ; Hayward, Caroline ; Heckbert, Susan R. ; Huang, Paul L. ; Jukema, J. W. ; Kahonen, Mika ; Kors, Jan A. ; Lambiase, Pier D. ; Launer, Lenore J. ; Li, Man ; Linneberg, Allan ; Nelson, Christopher P. ; Pedersen, Oluf ; Perez, Marco ; Peters, Annette ; Polašek, Ozren ; Psaty, Bruce M. ; Raitakari, Olli T. ; Rice, Kenneth M. ; Rotter, Jerome I. ; Sinner, Moritz F. ; Soliman, Elsayed Z. ; Spector, Tim D. ; Strauch, Konstantin ; Thorsteinsdottir, Unnur ; Tinker, Andrew ; Trompet, Stella ; Uitterlinden, Andre ; Vaartjes, Ilonca ; van der Meer, Peter ; Voelker, Uwe ; Voelzke, Henry ; Waldenberger, Melanie ; Wilson, James G. ; Xie, Zhijun ; Asselbergs, Folkert W. ; Doerr, Marcus ; van Duijn, Cornelia M. ; Gasparini, Paolo ; Gudbjartsson, Daniel F. ; Gudnason, Vilmundur ; Hansen, Torben ; Kaeaeb, Stefan ; Kanters, Jorgen K. ; Kooperberg, Charles ; Lehtimaki, Terho ; Lin, Henry J. ; Lubitz, Steven A. ; Mook-Kanamori, Dennis O. ; Conti, Francesco J. ; Newton-Cheh, Christopher H. ; Rosand, Jonathan ; Rudan, Igor ; Samani, Nilesh J. ; Sinagra, Gianfranco ; Smith, Blair H. ; Holm, Hilma ; Stricker, Bruno H. ; Ulivi, Sheila ; Sotoodehnia, Nona ; Apte, Suneel S. ; van der Harst, Pim ; Stefansson, Kari ; Munroe, Patricia B. ; Arking, Dan E. ; Lo, Cecilia W. ; Jamshidi, Yalda

Izvornik
Genome biology (1474-7596) 19 (2018); 87, 17

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Exome chip ; Conduction ; ADAMTS6 ; Meta-analysis

Sažetak
Background: Genome-wide association studies conducted on QRS duration, an electrocardiographic measurement associated with heart failure and sudden cardiac death, have led to novel biological insights into cardiac function. However, the variants identified fall predominantly in non- coding regions and their underlying mechanisms remain unclear. Results: Here, we identify putative functional coding variation associated with changes in the QRS interval duration by combining Illumina HumanExome BeadChip genotype data from 77, 898 participants of European ancestry and 7695 of African descent in our discovery cohort, followed by replication in 111, 874 individuals of European ancestry from the UK Biobank and deCODE cohorts. We identify ten novel loci, seven within coding regions, including ADAMTS6, significantly associated with QRS duration in gene-based analyses. ADAMTS6 encodes a secreted metalloprotease of currently unknown function. In vitro validation analysis shows that the QRS-associated variants lead to impaired ADAMTS6 secretion and loss-of function analysis in mice demonstrates a previously unappreciated role for ADAMTS6 in connexin 43 gap junction expression, which is essential for myocardial conduction. Conclusions: Our approach identifies novel coding and non-coding variants underlying ventricular depolarization and provides a possible mechanism for the ADAMTS6-associated conduction changes.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

Prins, Bram P.; Mead, Timothy J.; Brody, Jennifer A.; Sveinbjornsson, Gardar; Ntalla, Ioanna; Bihlmeyer, Nathan A.; van den Berg, Marten; Bork- Jensen, Jette; Cappellani, Stefania; Van Duijvenboden, Stefan et al.
Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6 // Genome biology, 19 (2018), 87, 17 doi:10.1186/s13059-018-1457-6 (međunarodna recenzija, članak, znanstveni)
Prins, B., Mead, T., Brody, J., Sveinbjornsson, G., Ntalla, I., Bihlmeyer, N., van den Berg, M., Bork- Jensen, J., Cappellani, S. & Van Duijvenboden, S. (2018) Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. Genome biology, 19, 87, 17 doi:10.1186/s13059-018-1457-6.
@article{article, author = {Prins, Bram P. and Mead, Timothy J. and Brody, Jennifer A. and Sveinbjornsson, Gardar and Ntalla, Ioanna and Bihlmeyer, Nathan A. and van den Berg, Marten and Bork- Jensen, Jette and Cappellani, Stefania and Van Duijvenboden, Stefan and Klena, Nikolai T. and Gabriel, George C. and Liu, Xiaoqin and Gulec, Cagri and Grarup, Niels and Haessler, Jeffrey and Hall, Leanne M. and Iorio, Annamaria and Isaacs, Aaron and Li-Gao, Ruifang and Lin, Honghuang and Liu, Ching-Ti and Lyytikainen, Leo-Pekka and Marten, Jonathan and Mei, Hao and Mueller-Nurasyid, Martina and Orini, Michele and Padmanabhan, Sandosh and Radmanesh, Farid and Ramirez, Julia and Robino, Antonietta and Schwartz, Molly and van Setten, Jessica and Smith, Albert V. and Verweij, Niek and Warren, Helen R. and Weiss, Stefan and Alonso, Alvaro and Arnar, David O. and Bots, Michiel L. and de Boer, Rudolf A. and Dominiczak, Anna F. and Eijgelsheim, Mark and Ellinor, Patrick T. and Guo, Xiuqing and Felix, Stephan B. and Harris, Tamara B. and Hayward, Caroline and Heckbert, Susan R. and Huang, Paul L. and Jukema, J. W. and Kahonen, Mika and Kors, Jan A. and Lambiase, Pier D. and Launer, Lenore J. and Li, Man and Linneberg, Allan and Nelson, Christopher P. and Pedersen, Oluf and Perez, Marco and Peters, Annette and Pola\v{s}ek, Ozren and Psaty, Bruce M. and Raitakari, Olli T. and Rice, Kenneth M. and Rotter, Jerome I. and Sinner, Moritz F. and Soliman, Elsayed Z. and Spector, Tim D. and Strauch, Konstantin and Thorsteinsdottir, Unnur and Tinker, Andrew and Trompet, Stella and Uitterlinden, Andre and Vaartjes, Ilonca and van der Meer, Peter and Voelker, Uwe and Voelzke, Henry and Waldenberger, Melanie and Wilson, James G. and Xie, Zhijun and Asselbergs, Folkert W. and Doerr, Marcus and van Duijn, Cornelia M. and Gasparini, Paolo and Gudbjartsson, Daniel F. and Gudnason, Vilmundur and Hansen, Torben and Kaeaeb, Stefan and Kanters, Jorgen K. and Kooperberg, Charles and Lehtimaki, Terho and Lin, Henry J. and Lubitz, Steven A. and Mook-Kanamori, Dennis O. and Conti, Francesco J. and Newton-Cheh, Christopher H. and Rosand, Jonathan and Rudan, Igor and Samani, Nilesh J. and Sinagra, Gianfranco and Smith, Blair H. and Holm, Hilma and Stricker, Bruno H. and Ulivi, Sheila and Sotoodehnia, Nona and Apte, Suneel S. and van der Harst, Pim and Stefansson, Kari and Munroe, Patricia B. and Arking, Dan E. and Lo, Cecilia W. and Jamshidi, Yalda}, year = {2018}, pages = {17}, DOI = {10.1186/s13059-018-1457-6}, chapter = {87}, keywords = {Exome chip, Conduction, ADAMTS6, Meta-analysis}, journal = {Genome biology}, doi = {10.1186/s13059-018-1457-6}, volume = {19}, issn = {1474-7596}, title = {Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6}, keyword = {Exome chip, Conduction, ADAMTS6, Meta-analysis}, chapternumber = {87} }
@article{article, author = {Prins, Bram P. and Mead, Timothy J. and Brody, Jennifer A. and Sveinbjornsson, Gardar and Ntalla, Ioanna and Bihlmeyer, Nathan A. and van den Berg, Marten and Bork- Jensen, Jette and Cappellani, Stefania and Van Duijvenboden, Stefan and Klena, Nikolai T. and Gabriel, George C. and Liu, Xiaoqin and Gulec, Cagri and Grarup, Niels and Haessler, Jeffrey and Hall, Leanne M. and Iorio, Annamaria and Isaacs, Aaron and Li-Gao, Ruifang and Lin, Honghuang and Liu, Ching-Ti and Lyytikainen, Leo-Pekka and Marten, Jonathan and Mei, Hao and Mueller-Nurasyid, Martina and Orini, Michele and Padmanabhan, Sandosh and Radmanesh, Farid and Ramirez, Julia and Robino, Antonietta and Schwartz, Molly and van Setten, Jessica and Smith, Albert V. and Verweij, Niek and Warren, Helen R. and Weiss, Stefan and Alonso, Alvaro and Arnar, David O. and Bots, Michiel L. and de Boer, Rudolf A. and Dominiczak, Anna F. and Eijgelsheim, Mark and Ellinor, Patrick T. and Guo, Xiuqing and Felix, Stephan B. and Harris, Tamara B. and Hayward, Caroline and Heckbert, Susan R. and Huang, Paul L. and Jukema, J. W. and Kahonen, Mika and Kors, Jan A. and Lambiase, Pier D. and Launer, Lenore J. and Li, Man and Linneberg, Allan and Nelson, Christopher P. and Pedersen, Oluf and Perez, Marco and Peters, Annette and Pola\v{s}ek, Ozren and Psaty, Bruce M. and Raitakari, Olli T. and Rice, Kenneth M. and Rotter, Jerome I. and Sinner, Moritz F. and Soliman, Elsayed Z. and Spector, Tim D. and Strauch, Konstantin and Thorsteinsdottir, Unnur and Tinker, Andrew and Trompet, Stella and Uitterlinden, Andre and Vaartjes, Ilonca and van der Meer, Peter and Voelker, Uwe and Voelzke, Henry and Waldenberger, Melanie and Wilson, James G. and Xie, Zhijun and Asselbergs, Folkert W. and Doerr, Marcus and van Duijn, Cornelia M. and Gasparini, Paolo and Gudbjartsson, Daniel F. and Gudnason, Vilmundur and Hansen, Torben and Kaeaeb, Stefan and Kanters, Jorgen K. and Kooperberg, Charles and Lehtimaki, Terho and Lin, Henry J. and Lubitz, Steven A. and Mook-Kanamori, Dennis O. and Conti, Francesco J. and Newton-Cheh, Christopher H. and Rosand, Jonathan and Rudan, Igor and Samani, Nilesh J. and Sinagra, Gianfranco and Smith, Blair H. and Holm, Hilma and Stricker, Bruno H. and Ulivi, Sheila and Sotoodehnia, Nona and Apte, Suneel S. and van der Harst, Pim and Stefansson, Kari and Munroe, Patricia B. and Arking, Dan E. and Lo, Cecilia W. and Jamshidi, Yalda}, year = {2018}, pages = {17}, DOI = {10.1186/s13059-018-1457-6}, chapter = {87}, keywords = {Exome chip, Conduction, ADAMTS6, Meta-analysis}, journal = {Genome biology}, doi = {10.1186/s13059-018-1457-6}, volume = {19}, issn = {1474-7596}, title = {Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6}, keyword = {Exome chip, Conduction, ADAMTS6, Meta-analysis}, chapternumber = {87} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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